Variant (rsID / SNP)

rs375217280

rs375217280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRIN2B. Location: chromosome 12, position 13,716,095. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GRIN2BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:13716095
Cytoband: 12p13.1
HGVS: NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)
Allele change: Synonymous_A1359A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.